Results 181 to 190 of about 118,836 (248)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila. [PDF]

Dis Model Mech
Karge RA, Fischer FP, Schüth H, Wechner A, Peter S, Kilo LA, Dichter M, Voigt A, Tavosanis G, van Loo KMJ, Koch H, Weber YG, Wolking S.   +12 more
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Developmental and Epileptic Encephalopathy Due to a Novel <i>ARHGEF9</i> Deletion Variant: Case Series of Two Siblings. [PDF]

Rev Neurol
Li J, Han G, Wei Y.
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies. [PDF]

Epilepsia
Gverdtsiteli S, Ortiz S, Brünger T, Furia F, Barba C, Bjørg-Hammer T, Borggraefe I, Caraballo R, Cirak S, Espeche A, Fazeli W, Guerrini R, Juanes M, Kassahn K, Kinali M, Krämer J, Kröll J, Herrero MCM, Oegema R, Ounap K, Peñuela O, Platzer K, Prasad AN, Pujol A, Reinson K, Represa A, Roza E, Valenzuela GR, Rodríguez-Palmero A, Sallevelt S, Sanchez-Albiusa MI, Scheffer IE, Smid C, Stafstrom CE, Stattin EL, Suarez JR, Syrbe S, Valente KD, Wagner M, Wortmann S, Gardella E, Lal D, Brunklaus A, Møller RS.   +43 more
europepmc   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

<i>IQSEC2</i>-related developmental and epileptic encephalopathy with a Rett-like phenotype: two cases with novel variants and a review of the literature. [PDF]

Front Pediatr
Cheng L, Lei B, Geng L, Li D, Zhou C, Yan C, Chen Q, Tian M.   +7 more
europepmc   +1 more source

Epileptic drop attacks: More than just atonic seizures

Epilepsia Open, EarlyView.
Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono, Kazuaki Sato, Ryoko Honda, Hiroshi Otsubo   +3 more
wiley   +1 more source